广西桂林地区2015-2019年19482名孕妇地中海贫血基因携带情况分析  

Analysis of Thalassemia Gene Carriers in 19 482 Pregnant Women from 2015 to 2019 in Guilin, Guangxi

作　　者：郑海青[1] 于祥远 曾丹 冯乔[1] 朱春江[1] ZHENG Hai-Qing;YU Xiang-Yuan;ZENG Dan;FENG Qiao;ZHU Chun-Jiang(Department of Genetics and Precision Medicine Laboratory,Affiliated Hospital of Guilin Medical University,Guilin 541001,Guangxi Zhuang Autonomous Region,China;Department of Epidemiology and Health Statistics,School of Public Health,Guilin Medical University,Guilin 541001,Guangxi Zhuang Autonomous Region,China)

机构地区：[1]桂林医学院附属医院遗传与精准医学实验室,广西桂林541001 [2]桂林医学院公共卫生学院流行病与卫生统计学教研室,广西桂林541001

出　　处：《中国实验血液学杂志》2021年第6期1892-1895,共4页Journal of Experimental Hematology

基　　金：国家自然科学基金(81360092);广西科技厅自然科学基金(2018JJA140062);广西医疗卫生重点学科项目;广西妇幼健康重点建设学科项目;广西八桂学者项目。

摘　　要：目的:探讨广西壮族自治区桂林地区孕期女性地中海贫血基因携带类型及频率分布。方法:收集2015年1月-2019年12月在桂林医学院附属医院产科门诊及优生遗传门诊就诊的孕妇血液样本,采用Gap-PCR法检测缺失型α地中海贫血基因突变,PCR-RDB法检测非缺失型α地中海贫血及点突变型β地中海贫血基因突变,罕见地中海贫血基因突变则采用多重连接探针扩增技术或者DNA测序,统计分析基因携带类型及频率。结果:共收集19 482例样本,地中海贫血基因携带者3 801例(19.51%)。α地中海贫血基因突变共检出7种类型,携带率为15.43%,以--^(SEA)缺失(7.32%)、-α^(3.7)缺失(3.97%)和-α^(4.2)缺失(1.4%)最常见;检出12种β地中海贫血突变类型,携带率为5.02%,以CD41-42(-TCTT)(2.32%)、CD17(AAG>TAG)(1.23%)以及IVS-Ⅱ-654(C>T)(0.55%)最常见。同时发现107例少见地中海贫血基因突变和异常血红蛋白。结论:广西桂林地区属于地中海贫血高发区,α地中海贫血以--^(SEA)缺失、-α^(3.7)缺失和-α^(4.2)缺失为主,β地中海贫血则以CD41-42(-TCTT)、CD17(AAG>TAG)和IVS-Ⅱ-654(C>T)为主。Objective: To investigate the types and frequencies of thalassemia genes carried by the pregnant women in Guilin, Guangxi Zhuang Autonomous Region, China. Methods: From January 2015 to December 2019, blood samples of the pregnant women who visited the Outpatients of Obstetrics clinic and Eugenics Genetic clinic in Affiliated Hospital of Guilin Medical University were collected. Gap-PCR was used to detect deletional α-thalassemia, PCR-RDB to detect the gene mutations of non-deletional α-thalassemia and β-thalassemia, and MLPA or DNA sequencing to detect rare thalassemia mutations. Different types and frequencies of thalassemia mutations carried by pregnant women were analyzed statistically. Results: A total of 19 482 blood samples were collected, including 3 801 thalassemia gene carriers(19.51%). Seven types of α-thalassemia gene mutation were detected with a carrier rate of 15.43%. Among them,--^(SEA)deletion(7.32%),-α^(3.7)deletion(3.97%), and-α^(4.2)deletion(1.4%) were the commonest types. Twelve types of β-thalassemia mutations were detected with a carrier rate of 5.02%. Among them, CD41-42(-TCTT)(2.32%), CD17(AAG>TAG)(1.23%), and IVS-Ⅱ-654(C>T)(0.55%) were the commonest types. In addition, 107 cases of rare thalassemia gene mutations and abnormal hemoglobin were found at the same time. Conclusion: Guilin is a high-risk area for thalassemia. Alpha-thalassemia is dominated by--^(SEA)deletion,-α^(3.7)deletion, and-α^(4.2)deletion, while β-thalassemia is by CD41-42(-TCTT), CD17(AAG>TAG), and IVS-Ⅱ-654(C>T).

关 键 词：桂林地区 地中海贫血 基因型 频率 

分 类 号：R556.61[医药卫生—血液循环系统疾病]